Outcomes of IVF-ET in patients with mosaic Turner syndrome: a retrospective study

To compare the outcomes of in vitro fertilization and embryo transfer (IVF-ET) between patients with mosaic Turner syndrome (TS) and those with a normal karyotype, and assess the impact of the degree of mosaicism on the outcome of IVF-ET treatment.

Patients undergoing IVF-ET between January 2022 and October 2024 were retrospectively included. After 1:2 propensity score matching (PSM), 99 patients with mosaic TS and 198 patients with a normal karyotype were assigned into the TS group and control group, respectively. The TS group was further stratified into low mosaicism (< 10% abnormal cells) and high mosaicism (≥ 10% abnormal cells) subgroups. The ovarian response, quality of oocytes and embryos, and outcomes of first embryo transfer cycle were compared.

The blastocyst rate was significantly lower in the TS group compared to the control group (43.45% vs. 51.40%, p = 0.011). Subgroup analysis revealed that the high mosaicism group had a significantly lower blastocyst rate compared to the low mosaicism group (38.39% vs. 48.76%, p = 0.034). No significant difference was detected in the rates of metaphase Ⅱ oocyte, normal fertilized oocyte, cleavage embryo, high-quality cleavage embryo, high-quality blastocyst, clinical pregnancy, live birth, miscarriage, complications during pregnancy, and birth weight and height of infants between the TS and control groups (p > 0.05) or between the TS subgroups.

The blastocyst formation rate was lower in patients with mosaic TS compared to those with a normal karyotype, showing a trend of decline along with the extent of mosaicism, while the outcomes of pregnancy are comparable.